del Mazo J, Martín M J, Abrisqueta J A, Aller V, Martín-Lucas M A, Pérez-Castillo A, de Torres M L
An Esp Pediatr. 1980 Aug;13(8):710-3.
An 8:10 translocation was found in a 15-day-old female child affected with adrenogenital syndrome. Some other members of the family also showed the same chromosomal anomaly. By G-, Q- and T-banding, break and fusion points were determined at the level of 8q21 and 10q24 bands. The hormone and enzymatic tests carried out in all the members of the family revealed a 21-hydroxylase deficiency only in the proposita. Possible relationship between the manifestation of syndrome and chromosomal anomaly are discussed.
在一名患有肾上腺生殖器综合征的15日龄女童中发现了8号与10号染色体易位。该家族的其他一些成员也表现出相同的染色体异常。通过G带、Q带和T带分析,确定断裂和融合点位于8号染色体长臂2区1带和10号染色体长臂2区4带水平。对该家族所有成员进行的激素和酶学检测显示,仅先证者存在21-羟化酶缺乏。本文讨论了综合征表现与染色体异常之间可能的关系。